Congenital insensitivity to pain with anhidrosis
(CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV.
Can CIPA be cured?
Inheritance is autosomal recessive .
There is still no cure for CIPA
. Treatment is aimed at controlling body temperature, preventing self-injury, and treating orthopedic problems, as soon as possible. It is very important to control the body temperature during surgery.
How long can CIPA patients live?
CIPA is extremely dangerous, and in most cases the patient
doesn't live over age of 25
. Although some of them can live a fairly normal life, they must constantly check for cuts, bruises, self-mutilations, and other possible unfelt injuries.
What is CIPA and why is it fatal?
In fact, half of CIPA deaths are
due to overheating because
of the person's inability to produce sweat. This causes hyperthermia, or extremely elevated body temperature, which then leads to death. Excessive self-mutilation can also lead to death in some cases.
Can CIPA patients taste?
Since the abilities of CIPA patients to perceive taste and smell were not basically impaired, despite their lower sensitivity to capsaicin, it was suggested that their dietary habits were
only minimally affected
, except for intake of pungent foods.
Can CIPA patients cry?
Growing Up with CIPA. Teething has special complications for a child with CIPA, like accidental self-mutilation. Children learn not to touch something hot the first time they get burned.
They cry when they scrape their knees
.
What are symptoms of CIPA?
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features:
the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis)
. This condition is also known as hereditary sensory and autonomic neuropathy type IV.
Can CIPA patients smell?
Actually, they wouldn't know because people with congenital insensitivity to pain
can't smell anything
. Researchers have discovered that these individuals who have a rare genetic condition rendering their lives pain-free also don't have a sense of smell.
Is Ashlyn a blocker?
Ashlyn Blocker is a young girl who has a
rare genetic disease
called CIP which stands for congenital insensitivity to pain. In other words, Ashlyn feels no pain. She has the inability to sense extreme temperatures of hot and cold.
How many cases of CIPA are there?
CIPA is a very rare disease; there are only
around 60 documented cases in the United States
and around 300 worldwide (3). Since it is a genetic disease, CIPA is more likely to occur in homogeneous societies. While there may be very few reported cases, many studies have been done on these individuals.
What causes CIP?
Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease
caused by mutations in the SCN9A gene
.
What is the difference between CIP and CIPA?
CIP is divided into two types:
with anhidrosis (the inability to sweat) and without anhidrosis
. Congenital insensitivity to pain with anhidrosis (CIPA) is the first human genetic disorder for which the molecular basis of CIP has been identified.
What is the mortality rate of CIPA?
A distinct form of congenital insensitivity to pain with anhidrosis (CIPA) has been identified, also known as hereditary sensory and autonomic neuropathy type IV.
Nearly 20% of patients with this disorder die within the first 3 years of life
because of hyperpyrexia.
Is CIPA a disability?
Intellectual disability
.
Most individuals with NTRK1-CIPA have varying degrees of intellectual disability and show characteristic behaviors [Indo 2002, Indo 2018]. Affected individuals show defects in conceptual thinking, abstract reasoning, and social behavior, as well as moderate to severe emotional disturbance.
Who discovered CIPA?
Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory autonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomal recessive disorder initially described by
Swanson
in 1963. We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.
How is CIPA inherited?
CIPA is a hereditary disease. It is autosomal recessive, which means that any person who has CIPA
must inherit the gene from both parents
. 1 Typically, the parents of an affected child carry the gene but do not have the disease if they only inherited the gene from one parent.
